Abstract
Most people with resistance to thyroid hormone have mutant thyroid hormone receptors that interfere with the function of the normal receptor and produce a dominant mode of inheritance. Conversely, thyroid hormone receptor β gene deletion is inherited as a recessive trait. In about 10% of cases, resistance to thyroid hormone manifests in the absence of thyroid hormone receptor gene abnormalities. The clinical manifestations and laboratory abnormalities found in these individuals are not significantly different than those found in patients with thyroid hormone receptor β defects. We propose that the defect must be elsewhere in the pathway of thyroid hormone action. (C) 2000 Lippincott Williams and Wilkins, Inc.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 253-259 |
| Number of pages | 7 |
| Journal | Current Opinion in Endocrinology and Diabetes |
| Volume | 7 |
| Issue number | 5 |
| DOIs | |
| State | Published - 2000 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Endocrinology
- Endocrinology, Diabetes and Metabolism
- Internal Medicine
Cite this
Resistance to thyroid hormone in the absence of mutations in the thyroid hormone receptor genes. / Sadow, P. M.; Reutrakul, S.; Weiss, Roy E; Refetoff, S.
In: Current Opinion in Endocrinology and Diabetes, Vol. 7, No. 5, 2000, p. 253-259.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Resistance to thyroid hormone in the absence of mutations in the thyroid hormone receptor genes
AU - Sadow, P. M.
AU - Reutrakul, S.
AU - Weiss, Roy E
AU - Refetoff, S.
PY - 2000
Y1 - 2000
N2 - Most people with resistance to thyroid hormone have mutant thyroid hormone receptors that interfere with the function of the normal receptor and produce a dominant mode of inheritance. Conversely, thyroid hormone receptor β gene deletion is inherited as a recessive trait. In about 10% of cases, resistance to thyroid hormone manifests in the absence of thyroid hormone receptor gene abnormalities. The clinical manifestations and laboratory abnormalities found in these individuals are not significantly different than those found in patients with thyroid hormone receptor β defects. We propose that the defect must be elsewhere in the pathway of thyroid hormone action. (C) 2000 Lippincott Williams and Wilkins, Inc.
AB - Most people with resistance to thyroid hormone have mutant thyroid hormone receptors that interfere with the function of the normal receptor and produce a dominant mode of inheritance. Conversely, thyroid hormone receptor β gene deletion is inherited as a recessive trait. In about 10% of cases, resistance to thyroid hormone manifests in the absence of thyroid hormone receptor gene abnormalities. The clinical manifestations and laboratory abnormalities found in these individuals are not significantly different than those found in patients with thyroid hormone receptor β defects. We propose that the defect must be elsewhere in the pathway of thyroid hormone action. (C) 2000 Lippincott Williams and Wilkins, Inc.
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UR - http://www.scopus.com/inward/citedby.url?scp=0033805191&partnerID=8YFLogxK
U2 - 10.1097/00060793-200010000-00008
DO - 10.1097/00060793-200010000-00008
M3 - Article
AN - SCOPUS:0033805191
VL - 7
SP - 253
EP - 259
JO - Current Opinion in Endocrinology, Diabetes and Obesity
JF - Current Opinion in Endocrinology, Diabetes and Obesity
SN - 1752-296X
IS - 5
ER -